A reminder to always look for the zebra amongst the horses

Kim's story was included in Canada’s Rare Voices 2023.

_“In 2018, I woke up the morning after a dental procedure and my lips were swollen. I just thought I was allergic to the dental anesthesia, but then it didn’t go away. In fact, it got worse despite taking many different allergy medications. It looked like I had bad lip injections and was very painful. I was working as a nurse in the recovery room at our local hospital and people were asking me, ‘What’s going on? Why do you look like that?’

All I could say was, ‘I really don’t know.’

I did a lot of research and, because I live in rural Manitoba, had to travel long distances to meet with allergists and immunologists. All of the testing turned up negative. My symptoms — with swelling that would subside for a while and then come back worse than ever — didn’t match with anything I had seen from years working in my local ER. It was six months before anyone had the idea that it might be a rare genetic condition called hereditary angioedema (HAE).

It was a big help when I finally got an official diagnosis and started treatment, but it did bring its own challenges. For one thing, my treatment isn't easy to access or administer. I actually ended up having a port installed to make it easier to treat myself. When I’m travelling for work, or with my husband and two sons, I have an extra bag of medical supplies that I need to bring along. You get looks, and people ask questions.

I really try not to let HAE limit what I do, but I know that it does. The anxiety of an attack is always in the back of my mind, and it makes it so hard to be spontaneous. Sometimes I’ll have an attack at very inconvenient times and it makes me not want to go anywhere or do anything. My husband has seen firsthand how much it has shrunk our social life and I carry a lot of guilt because of that.

"I really try not to let HAE limit what I do, but I know that it does. The anxiety of an attack is always in the back of my mind, and it makes it so hard to be spontaneous."

My big hope is that, with more research, things will get easier for the HAE community. I have friends who are in studies now, and I'm optimistic that things will keep improving. I’m hoping that, as more treatment options become available to me, I’ll be able to become more carefree and refocus more of my time and energy on the people that matter to me most — my husband and the boys. The boys are all grown up now so we know that every opportunity to be together is sacred.

All that said, I know that I’m still one of the fortunate ones. Fortunate that I’m proficient at treating myself because of my health care background. Fortunate that I'm now able to get local care despite living in a rural area. And fortunate that I was able to receive a correct diagnosis. Now, looking back, I realize that I had been experiencing symptoms for over 20 years. This is a rare disease, and people with HAE can have attacks for decades before getting an accurate diagnosis.

That delay is devastating because this disease can be deadly if left untreated. People can get laryngeal swells and asphyxiate. We need more awareness around this disease, especially in the health care space. Even just knowing about the disease myself, through my own diagnosis, has allowed me to be more aware of rare diseases in my everyday work and is a constant reminder to 'look for the zebras amongst the horses'.

We can all help people get diagnosed and treated more quickly with education, awareness, and advocacy. These three things change lives. I’ve seen it.”

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‍This content was supported by BioCryst Canada. This page was developed by Patient Voice, and the supporter did not influence the final article or editorial themes of this content.